Information on HAVCR2
Basic details
Alt. symbols: Tim-3 | TIM3 | FLJ14428 | TIMD3 | CD366
Approved name: hepatitis A virus cellular receptor 2
Alt. names: T-cell immunoglobulin mucin family member 3
Location: 5q33.3: 157085422 - 157142869 (-)
Gene type: protein_coding, 12 transcripts.
Scores: LoFtool: 0.713000 | pLI: 0.11138412 | LOEUF: 0.857
Normal function
Dysfunction and disease
T-cell lymphoma, subcutaneous panniculitis-like [MIM:618398] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SPTCL |
T-cell lymphoma, subcutaneous panniculitis-like | AR |
618398 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of HAVCR2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000307851.9 | CCDS4333 | Select | protein_coding | 7 | Yes | 2237 | NM_032782 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in HAVCR2
| ID | Year | Title | Journal | PMID | Variants |
|---|